Optic atrophy 7 with or without auditory neuropathy

Preferred Label : Optic atrophy 7 with or without auditory neuropathy;

Symbol : OPA7;

CISMeF acronym : OPA7;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the transmembrane protein 126A gene (TMEM126A, 612988.0001);

Prefixed ID : #612989;

Details

Origin ID

612989;

UMLS CUI

C2751812;

Automatic exact mappings (from CISMeF team)
- optic atrophy 7 [HGNC gene]
- transmembrane protein 126A [ORDO Gene]
- transmembrane protein 126A [HGNC gene]
Currated CISMeF NLP mapping
- Autosomal recessive optic atrophy, OPA7 type [ORDO Disease]
- optic atrophy 7 [DO Concept]
- optic atrophy 7 [MeSH concept]
- optic atrophy 7 [MeSH Supplementary Concept]
DO Cross reference
- optic atrophy 7 [DO Concept]
Genes related to phenotype
- Transmembrane protein 126a [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Central scotoma [HPO term]
- Constriction of peripheral visual field [HPO term]
- Dyschromatopsia [HPO term]
- Horizontal nystagmus [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Optic atrophy [HPO term]
- Optic disc pallor [HPO term]
- Pallor [HPO term]
- Reduced visual acuity [HPO term]
- Sensorineural hearing impairment [HPO term]
- Strabismus [HPO term]
- Variable expressivity [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Autosomal recessive optic atrophy, OPA7 type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive optic atrophy, OPA7 type [ORDO Disease]
- optic atrophy 7 [MeSH Supplementary Concept]
- optic atrophy 7 [MeSH concept]

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